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Publications in Genetics

COL4A1 Mutations Cause Neuromuscular Disease With Tissue-Specific Mechanistic Heterogeneity

American Journal of Human Genetics

English

Determination of Hydroxyl Groups in Biorefinery Resources via Quantitative 31P NMR Spectroscopy

Nature Protocols

Molecular Biology

English

A Versatile Gene-Based Test for Genome-Wide Association Studies

American Journal of Human Genetics

English

This Month in the Journal

American Journal of Human Genetics

English

Mutations in SNRPE, Which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

American Journal of Human Genetics

English

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections

American Journal of Human Genetics

English

Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

American Journal of Human Genetics

English

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome With Cranio-Facial and Skeletal Defects

American Journal of Human Genetics

English

De Novo Mutations in FOXP1 in Cases With Intellectual Disability, Autism, and Language Impairment

American Journal of Human Genetics

English

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-B in Inherited Skin Fragility

American Journal of Human Genetics

English